Associated Papers
Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
Koparir A et al.
American Journal of Medical Genetics. Part A, 2019
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL et al.
Ophthalmology, 2014
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S et al.
Orphanet Journal of Rare Diseases, 2014
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT et al.
Human Mutation, 2013
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl DJ et al.
European Journal of Human Genetics : Ejhg, 2010
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Aligianis IA et al.
Nature Genetics, 2005
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